Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.
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| Description | scientific article published on 27 September 2017 |
| Author/s |
author: Marta Romani Damir Musaev Monia Ginevrino Tommaso Mazza Barbara Illi Jessica Rosati Sara Nuovo William B. Dobyns Roberta De Mori Alessia Micalizzi Romina Alfonsi Susanne Roosing Silvia Tardivo Valentina Stanley Enza Maria Valente Maha Zaki Mahmoud Y Issa Enrico Bertini |
| Publication date | September 28, 2017 |
| Language | English |
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